BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 23071725)

  • 1. In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
    Gaertner A; Klauke B; Stork I; Niehaus K; Niemann G; Gummert J; Milting H
    PLoS One; 2012; 7(10):e47097. PubMed ID: 23071725
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy.
    Christensen AH; Andersen CB; Wassilew K; Svendsen JH; Bundgaard H; Brand SM; Schmitz B
    J Mol Cell Cardiol; 2019 Jun; 131():164-170. PubMed ID: 31051180
    [TBL] [Abstract][Full Text] [Related]  

  • 3. In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.
    Debus JD; Milting H; Brodehl A; Kassner A; Anselmetti D; Gummert J; Gaertner-Rommel A
    J Mol Cell Cardiol; 2019 Apr; 129():303-313. PubMed ID: 30885746
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
    Rasmussen TB; Palmfeldt J; Nissen PH; Magnoni R; Dalager S; Jensen UB; Kim WY; Heickendorff L; Mølgaard H; Jensen HK; Baandrup UT; Bross P; Mogensen J
    Hum Mutat; 2013 May; 34(5):697-705. PubMed ID: 23381804
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.
    Chen P; Li Z; Yu B; Ma F; Li X; Wang DW
    Int J Cardiol; 2020 Jan; 298():25-31. PubMed ID: 31653443
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.
    Vite A; Gandjbakhch E; Hery T; Fressart V; Gary F; Simon F; Varnous S; Hidden Lucet F; Charron P; Villard E
    Europace; 2020 Feb; 22(2):320-329. PubMed ID: 31845994
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
    Hermida A; Fressart V; Hidden-Lucet F; Donal E; Probst V; Deharo JC; Chevalier P; Klug D; Mansencal N; Delacretaz E; Cosnay P; Scanu P; Extramiana F; Keller DI; Rouanet S; Charron P; Gandjbakhch E
    Eur J Heart Fail; 2019 Jun; 21(6):792-800. PubMed ID: 30790397
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
    Chen L; Rao M; Chen X; Chen K; Ren J; Zhang N; Zhao Q; Yu W; Yuan B; Song J
    Int J Cardiol; 2019 Jan; 274():263-270. PubMed ID: 30454721
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
    Qadri S; Anttonen O; Viikilä J; Seppälä EH; Myllykangas S; Alastalo TP; Holmström M; Heliö T; Koskenvuo JW
    BMC Med Genet; 2017 Aug; 18(1):86. PubMed ID: 28818065
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.
    Blich M; Zohar Y; Cohen-Kaplan V; Minkov I; Asleh R; Horowitz-Cederboim S; Weiss K; Paperna T; Lessick J; Abadi S; Khoury A; Gepstein L; Suleiman M; Caspi O
    Pacing Clin Electrophysiol; 2024 Apr; 47(4):503-510. PubMed ID: 38375917
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics.
    Dieding M; Debus JD; Kerkhoff R; Gaertner-Rommel A; Walhorn V; Milting H; Anselmetti D
    Sci Rep; 2017 Oct; 7(1):13791. PubMed ID: 29062102
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
    Posch MG; Posch MJ; Geier C; Erdmann B; Mueller W; Richter A; Ruppert V; Pankuweit S; Maisch B; Perrot A; Buttgereit J; Dietz R; Haverkamp W; Ozcelik C
    Mol Genet Metab; 2008; 95(1-2):74-80. PubMed ID: 18678517
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.
    Lin Y; Huang J; Zhao T; He S; Huang Z; Chen X; Fei H; Luo H; Liu H; Wu S; Lin X
    J Electrocardiol; 2018; 51(5):837-843. PubMed ID: 30177324
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations of desmoglein-2 in sudden death from arrhythmogenic right ventricular cardiomyopathy and sudden unexplained death.
    Zhang M; Xue A; Shen Y; Oliveira JB; Li L; Zhao Z; Burke A
    Forensic Sci Int; 2015 Oct; 255():85-8. PubMed ID: 26296472
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-Exome Sequencing Identified a De Novo Mutation of
    Liu L; Chen C; Li Y; Yu R
    Biomed Res Int; 2019; 2019():9103860. PubMed ID: 31275992
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy.
    Noor Ul Ayan H; Ali PS; Korejo AA; Thiele H; Nürnberg P; Tariq M; Jamal SZ; Erdmann J; Ahmad I
    Clin Genet; 2023 Aug; 104(2):266-268. PubMed ID: 36843528
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.
    Chatterjee D; Fatah M;